Canonical Allele Identifier: CA394673774

Gene: ALG1

Linked Data

• MyVariant Identifiers: chr16:g.5132577G>T (hg19) ; chr16:g.5082576G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.5082576G>T , CM000678.2:g.5082576G>T	GRCh38
NC_000016.9:g.5132577G>T , CM000678.1:g.5132577G>T	GRCh37
NC_000016.8:g.5072578G>T	NCBI36
NG_009202.1:g.15768G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000592793.6:n.3226G>T
ENST00000682020.1:c.496G>T	ENSP00000508075.1:p.Val166Phe
ENST00000682206.1:c.*185G>T	ENSP00000508285.1:n.*185G>T
ENST00000682314.1:n.1138G>T
ENST00000682327.1:c.562G>T	ENSP00000507058.1:p.Val188Phe
ENST00000682349.1:n.3232G>T
ENST00000682703.1:n.4058G>T
ENST00000682797.1:c.*182G>T	ENSP00000507582.1:n.*182G>T
ENST00000682985.1:c.601G>T	ENSP00000507598.1:p.Val201Phe
ENST00000683433.1:c.349G>T	ENSP00000507463.1:p.Val117Phe
ENST00000683685.1:n.1964G>T
ENST00000683710.1:c.*1057G>T	ENSP00000506785.1:n.*1057G>T
ENST00000683739.1:c.757G>T	ENSP00000507002.1:p.Val253Phe
ENST00000683772.1:n.1134G>T
ENST00000684008.1:c.1028G>T	ENSP00000507962.1:n.1028G>T
ENST00000684190.1:c.1051G>T	ENSP00000507554.1:p.Val351Phe
ENST00000684335.1:c.979G>T	ENSP00000508112.1:p.Val327Phe
ENST00000262374.10:c.1090G>T MANE Select	ENSP00000262374.5:p.Val364Phe
ENST00000650085.1:n.1914G>T
ENST00000262374.9:c.1090G>T	ENSP00000262374.4:p.Val364Phe
ENST00000544428.1:c.757G>T	ENSP00000440019.1:p.Val253Phe
ENST00000588623.5:c.757G>T	ENSP00000468118.1:p.Val253Phe
ENST00000591822.5:c.*991G>T	ENSP00000467865.1:n.*991G>T
NM_019109.4:c.1090G>T	NP_061982.3:p.Val364Phe
XM_011522565.1:c.757G>T	XP_011520867.1:p.Val253Phe
NM_001330504.1:c.757G>T	NP_001317433.1:p.Val253Phe
XM_017023457.2:c.1051G>T	XP_016878946.1:p.Val351Phe
XM_017023458.1:c.757G>T	XP_016878947.1:p.Val253Phe
XR_932882.3:n.1119G>T
NM_019109.5:c.1090G>T MANE Select	NP_061982.3:p.Val364Phe
NM_001330504.2:c.757G>T	NP_001317433.1:p.Val253Phe